Incidental Mutation 'IGL01330:Zkscan16'
ID |
74468 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zkscan16
|
Ensembl Gene |
ENSMUSG00000038630 |
Gene Name |
zinc finger with KRAB and SCAN domains 16 |
Synonyms |
Zfp483 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
IGL01330
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
58943628-58958355 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58956483 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 255
(D255G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103178
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107554]
|
AlphaFold |
A2ALW2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107554
AA Change: D255G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103178 Gene: ENSMUSG00000038630 AA Change: D255G
Domain | Start | End | E-Value | Type |
SCAN
|
44 |
153 |
1.9e-42 |
SMART |
KRAB
|
170 |
230 |
1.66e-20 |
SMART |
internal_repeat_1
|
281 |
452 |
7.49e-5 |
PROSPERO |
ZnF_C2H2
|
483 |
505 |
4.79e-3 |
SMART |
ZnF_C2H2
|
511 |
533 |
2.75e-3 |
SMART |
ZnF_C2H2
|
539 |
561 |
1.6e-4 |
SMART |
ZnF_C2H2
|
567 |
589 |
5.99e-4 |
SMART |
ZnF_C2H2
|
595 |
617 |
1.99e0 |
SMART |
ZnF_C2H2
|
623 |
645 |
5.14e-3 |
SMART |
ZnF_C2H2
|
651 |
673 |
2.65e-5 |
SMART |
ZnF_C2H2
|
679 |
701 |
1.82e-3 |
SMART |
ZnF_C2H2
|
706 |
725 |
4.74e1 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
A |
G |
19: 31,898,351 (GRCm39) |
E245G |
possibly damaging |
Het |
Acap2 |
T |
C |
16: 30,973,495 (GRCm39) |
I43V |
probably damaging |
Het |
Acot11 |
T |
C |
4: 106,628,681 (GRCm39) |
T36A |
probably benign |
Het |
Bsn |
A |
G |
9: 107,988,112 (GRCm39) |
|
probably benign |
Het |
Capza2 |
T |
C |
6: 17,654,170 (GRCm39) |
|
probably null |
Het |
Cerkl |
A |
G |
2: 79,199,125 (GRCm39) |
I155T |
possibly damaging |
Het |
Dclre1b |
T |
C |
3: 103,710,442 (GRCm39) |
T490A |
probably benign |
Het |
Efcab6 |
G |
A |
15: 83,928,501 (GRCm39) |
S31L |
probably benign |
Het |
Faim |
T |
A |
9: 98,874,588 (GRCm39) |
M67K |
probably damaging |
Het |
Frem2 |
T |
G |
3: 53,562,662 (GRCm39) |
Q615P |
possibly damaging |
Het |
Fut9 |
A |
G |
4: 25,619,791 (GRCm39) |
V341A |
possibly damaging |
Het |
Grhpr |
T |
C |
4: 44,986,375 (GRCm39) |
F142L |
probably benign |
Het |
Kif14 |
T |
C |
1: 136,404,112 (GRCm39) |
V532A |
probably damaging |
Het |
Klk1b9 |
T |
A |
7: 43,627,867 (GRCm39) |
L55* |
probably null |
Het |
Kmt2e |
C |
A |
5: 23,702,946 (GRCm39) |
P1042Q |
possibly damaging |
Het |
Mpped1 |
T |
A |
15: 83,684,320 (GRCm39) |
I114N |
probably damaging |
Het |
Mtap |
C |
A |
4: 89,089,460 (GRCm39) |
T148K |
probably damaging |
Het |
Muc16 |
G |
A |
9: 18,419,803 (GRCm39) |
A8347V |
possibly damaging |
Het |
Nhs |
A |
T |
X: 160,624,449 (GRCm39) |
S967T |
probably damaging |
Het |
Npas3 |
A |
G |
12: 54,095,602 (GRCm39) |
Y344C |
probably damaging |
Het |
Or51q1 |
A |
T |
7: 103,629,349 (GRCm39) |
|
probably benign |
Het |
Or5an9 |
T |
C |
19: 12,187,404 (GRCm39) |
V158A |
possibly damaging |
Het |
Or8b12c |
T |
A |
9: 37,715,516 (GRCm39) |
F103Y |
probably damaging |
Het |
Osmr |
A |
G |
15: 6,871,509 (GRCm39) |
Y303H |
probably damaging |
Het |
Pcdhb8 |
A |
T |
18: 37,490,631 (GRCm39) |
I770F |
probably benign |
Het |
Pde4a |
C |
T |
9: 21,103,734 (GRCm39) |
|
probably benign |
Het |
Prkacb |
T |
G |
3: 146,457,266 (GRCm39) |
N79T |
probably damaging |
Het |
Psd3 |
A |
C |
8: 68,149,830 (GRCm39) |
Y1222D |
probably damaging |
Het |
Rrbp1 |
T |
A |
2: 143,810,538 (GRCm39) |
E847D |
possibly damaging |
Het |
Sbno1 |
A |
T |
5: 124,530,042 (GRCm39) |
D912E |
probably damaging |
Het |
Sgsm3 |
T |
A |
15: 80,895,053 (GRCm39) |
|
probably benign |
Het |
Shcbp1 |
T |
C |
8: 4,786,372 (GRCm39) |
T577A |
probably benign |
Het |
Siglec1 |
A |
T |
2: 130,925,456 (GRCm39) |
V335D |
probably damaging |
Het |
Siglec1 |
A |
T |
2: 130,916,925 (GRCm39) |
L1110* |
probably null |
Het |
Slc4a11 |
A |
G |
2: 130,529,602 (GRCm39) |
I335T |
probably benign |
Het |
Smchd1 |
A |
C |
17: 71,743,783 (GRCm39) |
S461A |
probably benign |
Het |
Spata16 |
C |
T |
3: 26,968,864 (GRCm39) |
P415S |
probably damaging |
Het |
Tdrd12 |
G |
A |
7: 35,204,459 (GRCm39) |
S217L |
possibly damaging |
Het |
Tmem156 |
C |
T |
5: 65,237,525 (GRCm39) |
R45H |
probably benign |
Het |
Vmn2r90 |
T |
C |
17: 17,953,542 (GRCm39) |
S569P |
probably benign |
Het |
Vps13c |
T |
A |
9: 67,871,390 (GRCm39) |
V3220E |
probably damaging |
Het |
Wdr59 |
T |
C |
8: 112,208,565 (GRCm39) |
N439S |
possibly damaging |
Het |
Zfp568 |
A |
G |
7: 29,721,702 (GRCm39) |
M215V |
probably benign |
Het |
Zgrf1 |
T |
A |
3: 127,377,656 (GRCm39) |
V967E |
probably damaging |
Het |
|
Other mutations in Zkscan16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00467:Zkscan16
|
APN |
4 |
58,957,709 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01296:Zkscan16
|
APN |
4 |
58,956,690 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02143:Zkscan16
|
APN |
4 |
58,956,911 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02901:Zkscan16
|
APN |
4 |
58,946,283 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03399:Zkscan16
|
APN |
4 |
58,956,915 (GRCm39) |
missense |
probably benign |
0.33 |
R0271:Zkscan16
|
UTSW |
4 |
58,952,391 (GRCm39) |
missense |
probably benign |
0.33 |
R0317:Zkscan16
|
UTSW |
4 |
58,957,602 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0542:Zkscan16
|
UTSW |
4 |
58,956,597 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1417:Zkscan16
|
UTSW |
4 |
58,952,377 (GRCm39) |
missense |
probably benign |
0.33 |
R1674:Zkscan16
|
UTSW |
4 |
58,948,918 (GRCm39) |
missense |
possibly damaging |
0.96 |
R2014:Zkscan16
|
UTSW |
4 |
58,956,525 (GRCm39) |
missense |
possibly damaging |
0.96 |
R2246:Zkscan16
|
UTSW |
4 |
58,957,329 (GRCm39) |
missense |
probably benign |
0.09 |
R2352:Zkscan16
|
UTSW |
4 |
58,951,869 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2851:Zkscan16
|
UTSW |
4 |
58,957,364 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2852:Zkscan16
|
UTSW |
4 |
58,957,364 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3896:Zkscan16
|
UTSW |
4 |
58,946,125 (GRCm39) |
start gained |
probably benign |
|
R4488:Zkscan16
|
UTSW |
4 |
58,957,431 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4631:Zkscan16
|
UTSW |
4 |
58,951,918 (GRCm39) |
missense |
probably damaging |
0.98 |
R4825:Zkscan16
|
UTSW |
4 |
58,957,809 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4912:Zkscan16
|
UTSW |
4 |
58,946,506 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5014:Zkscan16
|
UTSW |
4 |
58,951,892 (GRCm39) |
missense |
probably damaging |
0.97 |
R5411:Zkscan16
|
UTSW |
4 |
58,956,745 (GRCm39) |
frame shift |
probably null |
|
R5642:Zkscan16
|
UTSW |
4 |
58,957,748 (GRCm39) |
missense |
probably benign |
0.11 |
R5809:Zkscan16
|
UTSW |
4 |
58,946,481 (GRCm39) |
missense |
probably damaging |
0.98 |
R6089:Zkscan16
|
UTSW |
4 |
58,948,889 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6152:Zkscan16
|
UTSW |
4 |
58,946,260 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6469:Zkscan16
|
UTSW |
4 |
58,956,483 (GRCm39) |
missense |
probably damaging |
0.98 |
R7662:Zkscan16
|
UTSW |
4 |
58,957,679 (GRCm39) |
nonsense |
probably null |
|
R7790:Zkscan16
|
UTSW |
4 |
58,951,843 (GRCm39) |
nonsense |
probably null |
|
R8150:Zkscan16
|
UTSW |
4 |
58,952,407 (GRCm39) |
missense |
probably benign |
0.06 |
R8359:Zkscan16
|
UTSW |
4 |
58,957,230 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9022:Zkscan16
|
UTSW |
4 |
58,957,021 (GRCm39) |
missense |
probably benign |
0.03 |
R9133:Zkscan16
|
UTSW |
4 |
58,957,722 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9641:Zkscan16
|
UTSW |
4 |
58,956,577 (GRCm39) |
missense |
probably benign |
0.00 |
R9745:Zkscan16
|
UTSW |
4 |
58,957,473 (GRCm39) |
missense |
possibly damaging |
0.93 |
X0020:Zkscan16
|
UTSW |
4 |
58,956,747 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1176:Zkscan16
|
UTSW |
4 |
58,957,052 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Zkscan16
|
UTSW |
4 |
58,948,909 (GRCm39) |
missense |
probably benign |
0.07 |
|
Posted On |
2013-10-07 |